Variant report

Variant	rs9984820
Chromosome Location	chr21:45516696-45516697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45516513..45518844-chr21:45536383..45539263,2	MCF-7	breast:
2	chr21:45515970..45519529-chr21:45533153..45535731,3	K562	blood:

Variant related genes	Relation type
ENSG00000241945	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10084560	1.00[AMR][1000 genomes]
rs10470253	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227265	0.90[YRI][hapmap]
rs2838525	1.00[AMR][1000 genomes]
rs62226722	0.80[AFR][1000 genomes]
rs73377259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9306170	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9981524	1.00[AMR][1000 genomes]
rs9981945	1.00[AMR][1000 genomes]
rs9982231	1.00[AMR][1000 genomes]
rs9983454	1.00[AMR][1000 genomes]
rs9984328	0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv984522	chr21:45514579-45542066	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	esv3366579	chr21:45516638-45516943	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:45486200-45524000	Strong transcription	GM12878-XiMat	blood
4	chr21:45488400-45523800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45495600-45526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:45498400-45524000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr21:45498600-45523800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr21:45499000-45523600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:45499000-45524000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:45503600-45524200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:45504200-45524200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:45504600-45524800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr21:45505200-45524200	Strong transcription	Fetal Stomach	stomach
14	chr21:45509000-45525000	Strong transcription	Placenta	Placenta
15	chr21:45509400-45516800	Weak transcription	Fetal Brain Male	brain
16	chr21:45509600-45524200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr21:45509800-45525000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr21:45510000-45524400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr21:45510000-45524800	Strong transcription	Liver	Liver
20	chr21:45510400-45524200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:45510600-45522600	Weak transcription	Stomach Mucosa	stomach
22	chr21:45510600-45524800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:45510600-45525000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr21:45510600-45525000	Strong transcription	Thymus	Thymus
25	chr21:45510800-45522400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr21:45510800-45524800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr21:45510800-45524800	Strong transcription	Fetal Thymus	thymus
28	chr21:45511400-45525000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr21:45511600-45519400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:45511600-45524400	Strong transcription	Dnd41	blood
31	chr21:45511600-45524800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:45511600-45525000	Strong transcription	Fetal Brain Female	brain
33	chr21:45511800-45523800	Strong transcription	K562	blood
34	chr21:45511800-45524000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr21:45512000-45524000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:45512600-45518000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr21:45513200-45519400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr21:45513400-45524200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr21:45513800-45519200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr21:45513800-45520600	Strong transcription	Hela-S3	cervix
41	chr21:45513800-45524400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr21:45514000-45524000	Strong transcription	Colon Smooth Muscle	Colon
43	chr21:45514000-45525800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr21:45514600-45516800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr21:45514600-45524800	Strong transcription	Fetal Intestine Small	intestine
46	chr21:45514600-45524800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr21:45514600-45526600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr21:45515200-45517200	Enhancers	Brain Hippocampus Middle	brain
49	chr21:45515400-45518000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr21:45515400-45518000	Strong transcription	Primary T cells from cord blood	blood

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